Deletion of specific sequences or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation

Hum Genet. 1990 Oct;85(5):491-4. doi: 10.1007/BF00194222.

Abstract

Stable dicentric chromosomes behave as monocentrics because one of the centromeres is inactive. The cause of centromere inactivation is unknown; changes in centromere chromatin conformation and loss of centromeric DNA elements have been proposed as possible mechanisms. We studied the phenomenon of inactivation in two Y centromeres, having as a control genetically identical active Y centromeres. The two cases have the following karyotypes: 45, X/46,X,i(Y)(q12) and 46,XY/47,XY,+t(X;Y) (p22.3;p11.3). The analysis of the behavior of the active and inactive Y chromosome centromeres after Da-Dapi staining, CREST immunofluorescence, and in situ hybridization with centromeric probes leads us to conclude that, in the case of the isochromosome, a true deletion of centromeric chromatin is responsible for its stability, whereas in the second case, stability for its stability, whereas in the second case, stability of the dicentric (X;Y) is the result of centromere chromatin modification.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Centromere / physiology*
  • Chromatin / physiology*
  • Chromosome Banding
  • Chromosome Deletion*
  • DNA / analysis
  • Dosage Compensation, Genetic
  • Female
  • Fibroblasts / metabolism
  • Fluorescent Antibody Technique
  • Humans
  • Hypogonadism / genetics
  • Intellectual Disability / genetics
  • Karyotyping
  • Limb Deformities, Congenital
  • Lymphocytes / metabolism
  • Male
  • Nucleic Acid Hybridization
  • Y Chromosome*

Substances

  • Chromatin
  • DNA